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NaPi-IIc Mutations.pdf

nihms-360829.pdf
Preview of NaPi-IIc Mutations
🔗 Source: ncbi.nlm.nih.gov
📊 Size: 837 KB
📄 Pages: 15 pages
⬇️ Downloads: 99

Summary

Novel NaPi-IIc mutations cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and idiopathic hypercalciuria in unrelated families, with three new mutations identified, including c.104647del, c.560+23561-42del, and c.1764C>G (p.Y588X), and a heterozygous c.1571_1880del mutation in a patient with idiopathic hypercalciuria.

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Description

Novel NaPi-IIc mutations cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and idiopathic hypercalciuria in unrelated families, with three...

Technical Information

  • File Format: PDF
  • File Size: 837 KB
  • Pages: 15
  • Language: EN
  • Total Downloads: 99
  • Last Updated: 3 weeks ago

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